Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01868:Arhgap44'

178629

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgap44

Ensembl Gene

ENSMUSG00000033389

Gene Name

Rho GTPase activating protein 44

Synonyms

AU040829

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01868

Quality Score

Status

Chromosome

Chromosomal Location

64892865-65053779 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64902904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 521 (D521G)

Ref Sequence

ENSEMBL: ENSMUSP00000090681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047463] [ENSMUST00000093002]

AlphaFold

Q5SSM3

Predicted Effect

probably damaging
Transcript: ENSMUST00000047463
AA Change: D515G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039139
Gene: ENSMUSG00000033389
AA Change: D515G

Domain	Start	End	E-Value	Type
BAR	1	242	2.27e-71	SMART
RhoGAP	266	442	1.07e-66	SMART
low complexity region	530	556	N/A	INTRINSIC
low complexity region	561	575	N/A	INTRINSIC
low complexity region	592	606	N/A	INTRINSIC
low complexity region	616	631	N/A	INTRINSIC
low complexity region	664	689	N/A	INTRINSIC
low complexity region	695	707	N/A	INTRINSIC
low complexity region	716	746	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000093002
AA Change: D521G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090681
Gene: ENSMUSG00000033389
AA Change: D521G

Domain	Start	End	E-Value	Type
BAR	1	242	2.27e-71	SMART
RhoGAP	266	442	1.07e-66	SMART
low complexity region	536	562	N/A	INTRINSIC
low complexity region	567	581	N/A	INTRINSIC
low complexity region	598	612	N/A	INTRINSIC
low complexity region	622	637	N/A	INTRINSIC
low complexity region	670	695	N/A	INTRINSIC
low complexity region	701	713	N/A	INTRINSIC
low complexity region	722	752	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000130420
AA Change: D395G

SMART Domains

Protein: ENSMUSP00000115612
Gene: ENSMUSG00000033389
AA Change: D395G

Domain	Start	End	E-Value	Type
Pfam:BAR	1	117	1.1e-29	PFAM
RhoGAP	141	317	1.07e-66	SMART
low complexity region	411	437	N/A	INTRINSIC
low complexity region	442	456	N/A	INTRINSIC
low complexity region	473	487	N/A	INTRINSIC
low complexity region	497	512	N/A	INTRINSIC
low complexity region	545	570	N/A	INTRINSIC
low complexity region	576	588	N/A	INTRINSIC
low complexity region	597	627	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	G	A	18: 67,547,218 (GRCm39)	T569M	possibly damaging	Het
Aldh1l1	A	T	6: 90,560,212 (GRCm39)	K620*	probably null	Het
Amdhd2	G	T	17: 24,376,504 (GRCm39)	T346K	probably damaging	Het
Ccdc146	C	A	5: 21,538,052 (GRCm39)	A91S	probably damaging	Het
Ccdc187	C	A	2: 26,170,960 (GRCm39)	R506L	probably benign	Het
Cd37	T	C	7: 44,885,603 (GRCm39)	Q128R	probably benign	Het
Cdh22	T	A	2: 164,999,278 (GRCm39)	M185L	probably damaging	Het
Cib2	A	T	9: 54,455,759 (GRCm39)	N68K	probably damaging	Het
Ddx46	C	T	13: 55,787,683 (GRCm39)	R96*	probably null	Het
Dnajc13	A	T	9: 104,039,944 (GRCm39)	H2050Q	possibly damaging	Het
Drgx	C	A	14: 32,330,334 (GRCm39)	F150L	probably damaging	Het
Duox1	A	G	2: 122,168,888 (GRCm39)	H1172R	probably benign	Het
Eftud2	C	T	11: 102,759,953 (GRCm39)	V132I	probably benign	Het
Fcrl5	G	A	3: 87,351,014 (GRCm39)	D87N	possibly damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm5862	A	C	5: 26,227,769 (GRCm39)	W41G	probably benign	Het
Kat6a	T	C	8: 23,416,471 (GRCm39)	F660L	probably damaging	Het
Lipo2	T	C	19: 33,708,238 (GRCm39)	M259V	probably benign	Het
Lrrcc1	T	A	3: 14,619,417 (GRCm39)	L90*	probably null	Het
Lsm1	G	A	8: 26,283,821 (GRCm39)		probably null	Het
Luzp1	T	C	4: 136,270,048 (GRCm39)	I757T	probably damaging	Het
Micall1	A	G	15: 78,999,260 (GRCm39)	I76V	probably benign	Het
Mmp21	A	T	7: 133,277,643 (GRCm39)	D394E	probably damaging	Het
Mtfr1l	T	C	4: 134,258,018 (GRCm39)	D68G	probably null	Het
Necab2	A	G	8: 120,189,315 (GRCm39)	S162G	probably benign	Het
Or11a4	A	T	17: 37,536,043 (GRCm39)	Q9L	probably benign	Het
Or4c100	T	C	2: 88,356,059 (GRCm39)	V44A	possibly damaging	Het
Or51b17	G	A	7: 103,542,583 (GRCm39)	R120*	probably null	Het
Or6n1	C	T	1: 173,916,936 (GRCm39)	T110I	possibly damaging	Het
Pde7b	A	T	10: 20,282,911 (GRCm39)	C376*	probably null	Het
Pira12	G	A	7: 3,900,174 (GRCm39)	Q143*	probably null	Het
Plcb2	A	G	2: 118,540,071 (GRCm39)	L1074P	probably damaging	Het
Plcb2	G	T	2: 118,541,868 (GRCm39)	T914N	probably benign	Het
Prph	C	A	15: 98,954,224 (GRCm39)	D207E	probably damaging	Het
Rbp4	C	A	19: 38,112,968 (GRCm39)	R37L	probably damaging	Het
Ryr3	T	C	2: 112,633,503 (GRCm39)		probably benign	Het
Sardh	T	G	2: 27,117,159 (GRCm39)	Q496P	probably benign	Het
Serpina1f	T	A	12: 103,659,704 (GRCm39)	N193Y	probably benign	Het
Slc10a7	G	A	8: 79,423,965 (GRCm39)		probably null	Het
Spg7	T	C	8: 123,816,975 (GRCm39)		probably null	Het
Sphkap	T	C	1: 83,258,120 (GRCm39)		probably null	Het
Tas2r121	T	A	6: 132,677,235 (GRCm39)	I246L	probably benign	Het
Tbc1d9b	T	C	11: 50,052,460 (GRCm39)	F889S	probably damaging	Het
Tcp10a	T	C	17: 7,597,263 (GRCm39)	M140T	possibly damaging	Het
Tctn2	G	A	5: 124,754,591 (GRCm39)		noncoding transcript	Het
Tfap2b	G	T	1: 19,284,506 (GRCm39)	R138L	probably damaging	Het
Tnrc18	T	C	5: 142,757,567 (GRCm39)	T985A	unknown	Het
Treml1	G	A	17: 48,673,035 (GRCm39)	V211I	probably benign	Het
Ubr4	C	T	4: 139,139,989 (GRCm39)	Q1191*	probably null	Het
Vim	G	A	2: 13,583,249 (GRCm39)	R217H	possibly damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r77	A	G	7: 86,452,224 (GRCm39)	D468G	probably benign	Het
Vmn2r98	G	T	17: 19,286,548 (GRCm39)	V349F	probably benign	Het
Vwa7	A	T	17: 35,240,235 (GRCm39)	E401V	probably null	Het
Zfp119b	C	A	17: 56,246,866 (GRCm39)	V75L	possibly damaging	Het
Zfp287	C	T	11: 62,606,083 (GRCm39)	E275K	probably benign	Het

Other mutations in Arhgap44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:Arhgap44	APN	11	64,932,275 (GRCm39)	missense	probably damaging	0.96
IGL01553:Arhgap44	APN	11	64,943,944 (GRCm39)	missense	probably damaging	1.00
IGL01996:Arhgap44	APN	11	64,896,322 (GRCm39)	utr 3 prime	probably benign
IGL02093:Arhgap44	APN	11	64,965,360 (GRCm39)	missense	probably damaging	1.00
IGL02962:Arhgap44	APN	11	64,957,987 (GRCm39)	splice site	probably benign
IGL02963:Arhgap44	APN	11	64,922,489 (GRCm39)	missense	probably damaging	1.00
IGL03032:Arhgap44	APN	11	64,915,038 (GRCm39)	missense	probably damaging	1.00
R0071:Arhgap44	UTSW	11	64,902,721 (GRCm39)	missense	possibly damaging	0.90
R0152:Arhgap44	UTSW	11	64,902,745 (GRCm39)	missense	probably benign	0.13
R0402:Arhgap44	UTSW	11	64,922,903 (GRCm39)	splice site	probably benign
R1109:Arhgap44	UTSW	11	64,917,642 (GRCm39)	missense	probably benign	0.00
R1694:Arhgap44	UTSW	11	64,944,023 (GRCm39)	missense	probably damaging	1.00
R1946:Arhgap44	UTSW	11	64,902,922 (GRCm39)	missense	probably damaging	0.99
R2036:Arhgap44	UTSW	11	64,932,318 (GRCm39)	missense	possibly damaging	0.83
R2356:Arhgap44	UTSW	11	64,900,851 (GRCm39)	missense	probably damaging	1.00
R4342:Arhgap44	UTSW	11	64,902,887 (GRCm39)	nonsense	probably null
R4657:Arhgap44	UTSW	11	64,896,278 (GRCm39)	critical splice donor site	probably null
R4763:Arhgap44	UTSW	11	64,929,991 (GRCm39)	missense	probably damaging	0.98
R4803:Arhgap44	UTSW	11	64,943,921 (GRCm39)	missense	probably benign	0.00
R5652:Arhgap44	UTSW	11	64,915,064 (GRCm39)	missense	probably damaging	1.00
R5663:Arhgap44	UTSW	11	64,915,117 (GRCm39)	missense	probably damaging	1.00
R5833:Arhgap44	UTSW	11	64,929,503 (GRCm39)	missense	probably damaging	1.00
R6000:Arhgap44	UTSW	11	64,922,910 (GRCm39)	frame shift	probably null
R6001:Arhgap44	UTSW	11	64,922,910 (GRCm39)	frame shift	probably null
R6046:Arhgap44	UTSW	11	64,922,910 (GRCm39)	frame shift	probably null
R6066:Arhgap44	UTSW	11	64,922,910 (GRCm39)	frame shift	probably null
R6160:Arhgap44	UTSW	11	65,053,375 (GRCm39)	unclassified	probably benign
R6661:Arhgap44	UTSW	11	64,900,834 (GRCm39)	missense	probably damaging	0.97
R7062:Arhgap44	UTSW	11	64,902,758 (GRCm39)	missense	probably benign	0.25
R7388:Arhgap44	UTSW	11	64,915,094 (GRCm39)	nonsense	probably null
R7793:Arhgap44	UTSW	11	64,900,750 (GRCm39)	missense	probably damaging	0.99
R8190:Arhgap44	UTSW	11	64,929,479 (GRCm39)	missense	probably damaging	1.00
R8270:Arhgap44	UTSW	11	64,912,860 (GRCm39)	missense	possibly damaging	0.58
R8321:Arhgap44	UTSW	11	64,899,053 (GRCm39)	missense	probably benign	0.00
R8369:Arhgap44	UTSW	11	64,950,680 (GRCm39)	missense	probably damaging	1.00
R8876:Arhgap44	UTSW	11	64,898,896 (GRCm39)	missense	possibly damaging	0.93
R9296:Arhgap44	UTSW	11	64,957,933 (GRCm39)	missense	probably damaging	0.99
R9344:Arhgap44	UTSW	11	65,053,463 (GRCm39)	start codon destroyed	probably null	0.04
R9428:Arhgap44	UTSW	11	64,899,168 (GRCm39)	missense	probably damaging	1.00
X0022:Arhgap44	UTSW	11	64,944,038 (GRCm39)	missense	probably damaging	1.00
X0061:Arhgap44	UTSW	11	64,929,471 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-05-07